19-year-old Tim Schmitt has many hobbies and interests, including a love of music and St. Louis Cardinal baseball. St. Louis Children’s Hospital has been part of Tim’s family since he was born with a rare genetic disorder called Williams syndrome, a condition that affects nearly 30,000 people in the United States.
Beth Kozel, MD, PhD, director of the Williams Syndrome Center at St. Louis Children’s Hospital, feels very fortunate to work with children and adults like Tim. Sociable and uninhibited, these kids aren’t afraid to approach strangers and strike up a conversation. "It's fun to be their doctor, because every child is such a delight," says Dr. Kozel, a Washington University genetics specialist at St. Louis Children’s Hospital.
But there's a flip side. Williams syndrome can cause a range of problems, including developmental delays, narrowing of the blood vessels, high blood pressure, and problems with the levels of calcium and hormones in the blood. Only a small percentage of children with this rare genetic disorder will develop life-threatening complications of the disease, but it's very difficult to predict which ones will be severely affected.
"We need to do a better job of giving parents an idea of which parts of the condition they need to worry about, and which ones are not relevant to the child, so they can focus their energy on the right things," Dr. Kozel says.
That is what the Williams Syndrome Center aims to do; to utilize our combined expertise in the many areas where medical problems can occur to identify which potential Williams conditions need our attention in each individual. We are also interested in working with families to perform research that will help us identify individuals at risk for specific Williams syndrome-related conditions to positively impact the lives of people with Williams syndrome in the years to come.
As for Tim, he is a shining example of the power of optimism. He underwent a kidney transplant at Children’s Hospital in 2008 and has since visited the hospital regularly for follow-up appointments. With a zest for life, Tim is grateful to his hospital family for helping him thrive in a world where there are so many things to enjoy.